The marchf6 gene encodes an E3 ubiquitin-protein ligase involved in protein ubiquitination processes. This membrane-bound RING finger protein localizes to the endoplasmic reticulum. It functions during...[+]

The marchf6 gene encodes an E3 ubiquitin-protein ligase involved in protein ubiquitination processes. This membrane-bound RING finger protein localizes to the endoplasmic reticulum. It functions during neural development, with expression observed in the brain, eye, and spinal cord. The protein also contributes to oogenesis and early embryogenesis through its presence as a maternal mRNA. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD